BACKGROUND: Little is known about the occurrence of specific congenital malformations among offspring of mixed race-ethnicity. METHODS: Using data from a population-based registry, we explored the occurrence of selected malformation phenotypes in offspring to parents who were of different race-ethnicity. Data were derived from the California Birth Defects Monitoring Program, ...

Transfontanelle (cranial) ultrasonography was carried out in 98 Nigerian infants over a period of 5 years. Of the infants, 38 (38.8%) had hydrocephalus from various causes while 26 (25.5%) had congenital anomalies. As ultrasound equipment is becoming a more readily available and affordable tool in the developing countries, it should ...

BACKGROUND: Aortic valve stenosis (AVS), coarctation of the aorta (CoA), and hypoplastic left heart syndrome (HLHS) are obstructive malformations of the left ventricular outflow tract that account for a significant proportion of infant mortality. Two previous small case-control studies suggested methylenetetrahydrofolate reductase (MTHFR) polymorphisms may be associated with this group ...

Tracheal agenesis is a potentially lethal congenital anomaly, appearing only at birth. We describe a newborn preterm infant who presented with immediate respiratory distress and no audible cry. There was almost complete tracheal agenesis with a very short segment of distal trachea (only two tracheal rings) arising from the anterior ...

Ectopia Cordis is a dramatic but rare cardiac anomaly with poor prognosis in most centers worldwide. This rare malformation occurs in 5.5-7.9 per million live births in the USA(1). This cardiac malformation is defined as a heart that is in an extra- thoracic position. In this article, we report two ...

Neonatal deaths in infants born at term are relatively rare in the USA, occurring in 0.9/1000 live births. Congenital malformations, perinatal asphyxia, infections and inborn errors of metabolism are the leading causes. Chromosomal malformation syndromes, congenital heart disease, pulmonary hypoplasia and severe neural tube defects comprise the majority of lethal ...

The aim of this work was to determine the impact of parental consanguinity on congenital malformations in a mixed urban and rural Arab community in Jerusalem, Israel. Arab mothers admitted to four hospitals in west Jerusalem were interviewed after delivery. Demographic and obstetric data were recorded. Neonatal data were extracted ...

Congenital malformations were studied prospectively covering 11680 consecutive deliveries. The overall incidence of malformations was 2.3%. Musculoskeletal system was the most commonly involved system. The incidence of malformation was higher in still borns, premature, low birth weight babies and those with positive heredo-familial history. It was also higher in babies, ...

BACKGROUND: There is a paucity of epidemiologic information about the external ear malformations anotia and microtia. METHODS: Using data from a large population-based registry, we explored prevalences and maternal/infant characteristics associated with anotia and microtia. Data were derived from the California Birth Defects Monitoring Program, a population-based active surveillance system ...

Sirenomelia, also called the mermaid syndrome is a severe malformation involving multiple organs and characterized by partially or completely developed lower extremities fused by the skin. The birth of a "mermaid" is very rare (1.2-4.2 cases for 100,000 births); most are stillborn, or die at or shortly after birth. The ...

Congenital diaphragmatic hernia (CDH) occurs in 1 of every 2000 to 4000 births and accounts for 8% of all major congenital anomalies. Recurrence risk for a subsequent pregnancy is estimated at 2%. The mortality rate for CDH when diagnosed antenatally, varies with fetal age and with the presence or absence ...

The continued occurrence of congenital syphilis is an indictment of the inadequate antenatal care services and poor quality of programmes to control sexually transmitted infections. More than 1 million infants are born with congenital syphilis each year. Despite national policies on antenatal testing and the widespread use of antenatal services, ...

We survey the postmortem findings of cardiovascular malformations in infants under the age of 1 year who died suddenly and unexpectedly, in a way that mimicked sudden infant death syndrome (SIDS), and evaluate the importance of the malformation for the fatal outcome. Four hundred fifty-seven infants under the age of ...

Using a statistical methodology, we aimed to identify a group of probable cases of oculo-auriculo-vertebral (OAV) dysplasia and to investigate possible relationships between different patterns of congenital malformations. Among 5,260 infants with multiple malformations collected from 4 large registers of congenital malformations, we identified 312 probable OAV cases. With the ...

The objective of this study was to describe the congenital anomalies in 17 Canadian neonatal intensive care units (NICUs) and their impact on mortality, morbidity, and resource utilization. This study was performed using a database analysis of 19,507 consecutive admissions. Results show that 13.7% of admissions had one or more ...

Fetal neurologic consultations were provided to 166 maternal-fetal pairs over a 5-year period. Consultations were initiated during the second trimester in 46% (74/166) of pairs. Fifty-percent (83/166) of these consultations involved brain malformations, of which 55% (46/83) were also associated with other organ abnormalities. Brain malformations principally consisted of encephalocele, ...

Defining and classifying congenital disorders of the cerebellum can be difficult and confusing. One reason is that some abnormalities called "malformations" are not truly (primary) developmental malformations. This applies to Chiari I "malformations" as well as to Chiari II "malformations." The latter results mainly from a prenatal cerebrospinal fluid (CSF) ...

There have been amazing advances in embryology, teratology, reproductive biology, genetics, and epidemiology in the past 50 years that have provided scientists and clinicians with a better perspective on the causes of congenital malformations. We still cannot provide the families of children with malformations a definitive diagnosis and cause in ...

We present a unique case of an infant with acute monocytic leukaemia who presented at birth with multiple rubbery, erythematous to violaceous subcutaneous nodules secondary to leukaemia cutis. As these infiltrates regressed with chemotherapy, numerous white to yellow linear confluent papules appeared in a scratch-like pattern. These lesions were widely ...

Between 1992 and 20012, 54 infants were attended to at the University of Calabar Teaching Hospital, the only tertiary referral center for paediatric surgery in Southeastern Nigeria. There was a male: female ratio of 1:1.5 and majority of the infants (75%) were born to teenage mothers of low socio-economic status. ...

Few population-based epidemiologic data are available on malformation phenotypes that co-occur with orofacial clefts. We explored the occurrence of structural congenital malformations in offspring with cleft palate (CP) and in offspring with cleft lip with or without CP (CLP), using data from a population-based active surveillance system. Ascertainment was performed ...

The origin, extent and topographical relationships of the urethral plate and its role in the pathogenesis of developmental anomalies (bladder extrophy, epispadias and hypospadias) remain incompletely resolved. The commonly held view that the urethral plate (the forerunner of the urethra) arises through distal proliferation of the cells of the anterior ...

Congenital anomalies of the female genital tract result from müllerian duct anomalies and/or abnormalities of the urogenital sinus or cloaca. Due to the close developmental relationship between the genital and the urinary tracts, association of anomalies in both systems are common. This article reviews the appearance of developmental anomalies of ...

BACKGROUND: Considerable debate exists on the epidemiology of genital anomalies. METHODS: All genital anomalies, excluding undescended testes, were identified from neonatal returns, stillbirth and infant death survey records, and returns relating to hospital admissions and linked to form infant profiles on a cohort of singleton births between 1988 and 1997 ...

BACKGROUND/PURPOSE: Anorectal malformations occur in 1 per 4,000 live births and represent a surgical challenge. Although critically important, the basic mechanisms of normal anorectal union are incompletely understood. Fgf10 signaling is known to serve a key role in mesenchymal/epithelial interactions in many organ systems including the gastrointestinal tract (GIT). The ...

BACKGROUND: The frequency of hypospadias is not uniform worldwide. Several countries have reported an increase in its frequency at birth. Although a better ascertainment of the minor forms has been considered as an explanation, the potential effect of environmental endocrine disrupters has also been proposed. We studied the secular trend ...

AIM: Antiepileptic drugs (AEDs) are known teratogens. Some specificity between different AEDs has been noted in the literature. The aim was to compare the teratogenic effect of valproic acid (VPA) and carbamazepine (CBZ) in monotherapy. METHODS: Infants exposed to AEDs (n = 1398) in early pregnancy were identified from the ...

AIMS: To determine the incidence and outcome of congenital leukaemia. METHODS: Retrospective population based study of putative leukaemia arising during the first 3 months of life over an 18 year period within the Northern Health Region of England. RESULTS: Nine infants with putative leukaemia were identified. Five had acute leukaemia ...

Rectal atresia is an extremely rare anorectal malformation. A unique case of rectal atresia presenting as an imperforate membrane associated with congenital cardiac malformations and unilateral choanal atresia in a newborn is reported. Ultrasound examination in the newborn infant located the presence of the rectal membrane which was surgically treated ...

BACKGROUND: Sex ratio (SR) deviations have been reported for many congenital anomalies, but so far no satisfactory explanation for these deviations has been found. The aim of this study was to detect sex-related differences in the association between risk factors and congenital anomalies, and to relate these differences with possibly ...

Three preterm newborns affected by congenital syphilis, born to mothers not adequately treated during pregnancy, are described. The clinical picture is characterized by a severe cholestatic hepatopathy and, in the two surviving patients, by an unusually wide ischemic-hemorrhagic lesion of the cerebral parenchyma. This lesion is probably due to a ...

In a genetic epidemiological and fertility survey among 70,000 inhabitants in a high-background radiation region (HBRR) and normal radiation region (NRR) in Kerala, India, 985 persons were found to have heritable anomalies. Suggested etiologies for the anomalies were chromosomal and Mendelian, 15 percent; multifactorial, 60 percent; and congenital, 25 percent. ...

BACKGROUND: Behavioral and socioeconomic factors create considerable obstacles to the elimination of congenital syphilis. A clear understanding of maternal risk factors is important to define interventions in every community. GOAL: The goal of this study was to investigate maternal risk factors for congenital syphilis. STUDY DESIGN: We conducted a case-control ...

PURPOSE: To test the hypothesis that there is greater asymmetry in diffusion properties between right and left pyramidal tracts in patients with congenital hemiparesis than in patients with normal motor function. MATERIALS AND METHODS: Four congenitally hemiparetic patients and four age-matched controls underwent magnetic resonance diffusion tensor imaging (DTI)-based three-dimensional ...

OBJECTIVES: To assess whether the efficacy of screening for fetal malformations is affected by patient-, staff-, team- or work environment-related factors. METHODS: A prospective cohort study was carried out at a Danish university hospital with 4000 deliveries per year. In total, 7963 fetuses were examined by midtrimester ultrasound scan during ...

An infant was born at term after having received a diagnosis of omphalacele on prenatal ultrasound scan. She did not have an omphalacele but rather had a patent urachus with bladder eversion onto the abdominal wall. The remainder of the genitourinary tract was normal, and it was possible to pass ...

OBJECTIVE: The objective of the study is to present longitudinal observations in antenatally detected congenital lung malformations (CLM), particularly pulmonary sequestration (PS) and cystic adenomatoid malformation (CAM). METHODS: Fetuses found to have a CLM on prenatal ultrasound (US) were included in this study and followed up until delivery. In all ...

Although several researchers have addressed the risk of congenital anomaly in relation to proximity to landfill sites, few have considered the risks of stillbirth or neonatal death for mothers who reside near landfills. The authors studied all 4,325 stillbirths, 3,430 neonatal deaths, and 1,569 lethal congenital anomalies that occurred among ...

Tracheal agenesis is a rare congenital anomaly and typically has fatal consequences. Associated congenital malformations are present in 90 per cent of cases, most frequently affecting the cardiovascular or gastrointestinal systems and the genitourinary tract. Affected infants lack prenatal symptoms and usually present with severe respiratory distress, absence of audible ...

Eleven cases of newborns with acrania and macroscopically diagnosed anencephaly were neuropathologically examined. They presented changes in which 1 group corresponded to the diagnosis of aprosencephaly. In the second group, the development of prosencephalic structures was more advanced. The pathomechanism of the observed anomalies was analyzed in relation to data ...

BACKGROUND/PURPOSE: Gastrointestinal hormones modulate gut function in response to enteral nutrition. Infants with a congenital intestinal anomaly with loss of bowel length either pre-or postnatal, who are on total parenteral nutrition for prolonged periods after surgery, are especially prone to a disturbed secretion of gut hormones. The aim of this ...

OBJECTIVE: To examine the occurence and outcomes of African babies born with features of Eagle-Barret syndrome at a tertiary health centre. DESIGN: Case series. SETTING: University Teaching Hospital, Yaounde, Cameroon. SUBJECTS: Patients were identified through a retrospective review of obstetric records of mothers admitted at the centre within the period ...

AIMS: This study attempts to determine the type and relative frequency of muscle diseases contributing to floppy and hypotonic infants in Singapore. METHODS: Eighty consecutive muscle biopsies in the Department of Pathology, National University of Singapore, in the period 1978-2000, in which a clinical diagnosis of floppy or hypotonic infant ...

PURPOSE: To report the first documented case of intrauterine transmission of West Nile virus (WNV) with resulting congenital chorioretinal scarring and central nervous system malformation in a newborn. DESIGN: Case report. METHODS: Ophthalmic findings and laboratory data in an otherwise presumed healthy 2-day-old female are presented. The infant's mother developed ...

OBJECTIVES: To determine the prevalence of major congenital malformations in West Herzegovina, a part of Bosnia and Herzegovina, immediately and five years after 1991-1995 military activities, which allegedly included the use of weapons with depleted uranium. METHODS: The study included all live-born and stillborn neonates and excluded all aborted fetuses ...

The floppy infant syndrome is a well-recognized entity for pediatricians and neonatologists. The condition refers to an infant with generalized hypotonia presenting at birth or in early life. The diagnostic work up in many instances is often complex, and requires multidisciplinary assessment. Advances in genetics and neurosciences have lead to ...

The aim of this research was to determine the relative prevalence at birth of major malformations among the different religious communities in Israel as a way to better understand their causes. We collected data on malformations present among liveborn infants in a 10-year period from the national registry of birth ...